NM_001399.5(EDA):c.607C>A (p.Pro203Thr) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 15, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001551029.2

Allele description [Variation Report for NM_001399.5(EDA):c.607C>A (p.Pro203Thr)]

NM_001399.5(EDA):c.607C>A (p.Pro203Thr)

Gene:

EDA:ectodysplasin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_001399.5(EDA):c.607C>A (p.Pro203Thr)

HGVS:

NC_000023.11:g.70027937C>A
NG_009809.2:g.416871C>A
NM_001005609.2:c.607C>A
NM_001005612.3:c.607C>A
NM_001399.5:c.607C>AMANE SELECT
NP_001005609.1:p.Pro203Thr
NP_001005612.2:p.Pro203Thr
NP_001390.1:p.Pro203Thr
NC_000023.10:g.69247787C>A
NM_001399.4:c.607C>A

Protein change:

P203T

Links:

dbSNP: rs397516671

NCBI 1000 Genomes Browser:

rs397516671

Molecular consequence:

NM_001005609.2:c.607C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001005612.3:c.607C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001399.5:c.607C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001771449	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Dec 15, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001771449

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Dec 15, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001771449.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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